Variant report

Variant	esv1799956
Chromosome Location	chr3:75752245-75813330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1430)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1430 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:75754843-75755270	K562	blood:	n/a	n/a
2	ARID3A	chr3:75770122-75770154	HepG2	liver:	n/a	n/a
3	ATF1	chr3:75765400-75768808	K562	blood:	n/a	n/a
4	ATF1	chr3:75778219-75778585	K562	blood:	n/a	n/a
5	ATF1	chr3:75783726-75784839	K562	blood:	n/a	n/a
6	ATF1	chr3:75771441-75772260	K562	blood:	n/a	n/a
7	ATF1	chr3:75759504-75760427	K562	blood:	n/a	n/a
8	ATF1	chr3:75779002-75782622	K562	blood:	n/a	n/a
9	ATF1	chr3:75754856-75755222	K562	blood:	n/a	n/a
10	ATF1	chr3:75769325-75769986	K562	blood:	n/a	n/a
11	ATF1	chr3:75773435-75776229	K562	blood:	n/a	n/a
12	ATF1	chr3:75755512-75756182	K562	blood:	n/a	n/a
13	ATF1	chr3:75761625-75762259	K562	blood:	n/a	n/a
14	ATF1	chr3:75785062-75787392	K562	blood:	n/a	n/a
15	ATF1	chr3:75760657-75761408	K562	blood:	n/a	n/a
16	ATF1	chr3:75763746-75764601	K562	blood:	n/a	n/a
17	ATF1	chr3:75787686-75789584	K562	blood:	n/a	n/a
18	ATF1	chr3:75777037-75777776	K562	blood:	n/a	n/a
19	ATF1	chr3:75789795-75794952	K562	blood:	n/a	n/a
20	ATF1	chr3:75762715-75762961	K562	blood:	n/a	n/a
21	ATF3	chr3:75788958-75789896	K562	blood:	n/a	n/a
22	BACH1	chr3:75787478-75787482	K562	blood:	n/a	n/a
23	BATF	chr3:75804084-75804405	GM12878	blood:	n/a	n/a
24	BATF	chr3:75799266-75799555	GM12878	blood:	n/a	n/a
25	BATF	chr3:75809554-75809812	GM12878	blood:	n/a	n/a
26	BATF	chr3:75802230-75802905	GM12878	blood:	n/a	n/a
27	BATF	chr3:75798934-75799129	GM12878	blood:	n/a	n/a
28	BATF	chr3:75812381-75812837	GM12878	blood:	n/a	n/a
29	BATF	chr3:75801643-75802130	GM12878	blood:	n/a	n/a
30	BATF	chr3:75799350-75799605	GM12878	blood:	n/a	n/a
31	BCL11A	chr3:75799238-75799590	GM12878	blood:	n/a	n/a
32	BCL11A	chr3:75798905-75799142	GM12878	blood:	n/a	n/a
33	BCL11A	chr3:75801736-75802185	GM12878	blood:	n/a	n/a
34	BCL11A	chr3:75812640-75812857	GM12878	blood:	n/a	n/a
35	BCL11A	chr3:75804074-75804402	GM12878	blood:	n/a	n/a
36	BCL11A	chr3:75809620-75809747	GM12878	blood:	n/a	n/a
37	BCL11A	chr3:75808192-75808432	GM12878	blood:	n/a	n/a
38	BCL11A	chr3:75812346-75812919	GM12878	blood:	n/a	chr3:75812859-75812868
39	BCL11A	chr3:75806051-75806225	GM12878	blood:	n/a	n/a
40	BCL11A	chr3:75809604-75809903	GM12878	blood:	n/a	n/a
41	BCL3	chr3:75768536-75768746	K562	blood:	n/a	n/a
42	BDP1	chr3:75786511-75788383	Hela-S3	cervix:	n/a	n/a
43	BDP1	chr3:75793811-75794420	Hela-S3	cervix:	n/a	n/a
44	BDP1	chr3:75760903-75761397	Hela-S3	cervix:	n/a	n/a
45	BDP1	chr3:75759163-75760279	Hela-S3	cervix:	n/a	n/a
46	BDP1	chr3:75755278-75756197	Hela-S3	cervix:	n/a	n/a
47	BDP1	chr3:75787581-75788623	K562	blood:	n/a	n/a
48	BHLHE40	chr3:75812595-75812925	HepG2	liver:	n/a	n/a
49	BHLHE40	chr3:75804011-75804470	HepG2	liver:	n/a	n/a
50	BHLHE40	chr3:75807495-75807613	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:75804459..75806623-chr3:75811168..75814143,2	K562	blood:
2	chr17:56709052..56711813-chr3:75770362..75772517,2	MCF-7	breast:
3	chr3:75790783..75791412-chr6:15280318..15280818,2	MCF-7	breast:
4	chr3:75804459..75806623-chr3:75811168..75814143,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTN3-1	chr3:75762167-75762465	NONHSAT090550

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4273	chr3:75787441-75787458	MIMAT0016903

No data

Variant related genes	Relation type
MIR4273	TF binding region
RN7SL92P	TF binding region
ENSG00000212195	chromatin interactions

Extended variants
information (count: 6316 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:6316 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71238231	chr3:75752259-75752260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs11710693	chr3:75752274-75752275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs75336093	chr3:75752296-75752297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs62246544	chr3:75752324-75752325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs202063818	chr3:75752332-75752333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs76618919	chr3:75752417-75752418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs76416026	chr3:75752441-75752442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113205886	chr3:75752461-75752462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs79785742	chr3:75752496-75752497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs116757264	chr3:75752504-75752505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs78601615	chr3:75752510-75752511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs80126437	chr3:75752523-75752524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs116906900	chr3:75752533-75752534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs78688715	chr3:75752539-75752540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs200980076	chr3:75752553-75752554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201915642	chr3:75752554-75752555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs79969153	chr3:75752564-75752565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs143009914	chr3:75752586-75752587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200097744	chr3:75752603-75752604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201188408	chr3:75752605-75752606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs201972955	chr3:75752611-75752612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs77248193	chr3:75752631-75752632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs180880759	chr3:75752636-75752637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200188598	chr3:75752648-75752649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs138872839	chr3:75752657-75752658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs149382443	chr3:75752658-75752659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs144706355	chr3:75752659-75752660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs148510113	chr3:75752671-75752672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs186357508	chr3:75752676-75752677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs111658559	chr3:75752681-75752682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs191315400	chr3:75752684-75752685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs369043405	chr3:75752686-75752687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs113645428	chr3:75752690-75752691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs372458634	chr3:75752692-75752693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375591532	chr3:75752693-75752694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs138963919	chr3:75752700-75752701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs148740998	chr3:75752707-75752708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200703630	chr3:75752710-75752711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs200105378	chr3:75752727-75752728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs200847584	chr3:75752762-75752763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs79283618	chr3:75752771-75752772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs75231201	chr3:75752774-75752775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs115074208	chr3:75752783-75752784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs78611539	chr3:75752786-75752787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs138416052	chr3:75752790-75752791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs199903801	chr3:75752794-75752795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs202246330	chr3:75752795-75752796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs199668540	chr3:75753603-75753604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73841511	chr3:75753610-75753611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs201584466	chr3:75753613-75753614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:755 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75743600-75752800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:75753600-75756800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:75754200-75756400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:75754200-75756400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr3:75754600-75756400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr3:75754800-75756000	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr3:75754800-75756400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr3:75754800-75756400	ZNF genes & repeats	Fetal Brain Male	brain
9	chr3:75754800-75756800	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr3:75755000-75756200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:75755000-75756200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
12	chr3:75755000-75756600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr3:75755200-75756600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:75755400-75755800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
15	chr3:75755400-75756200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:75755400-75756200	ZNF genes & repeats	Fetal Lung	lung
17	chr3:75755400-75756200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
18	chr3:75755400-75756400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr3:75755400-75756400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr3:75755400-75756600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:75755400-75756800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr3:75755400-75756800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:75755400-75756800	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr3:75755600-75756000	ZNF genes & repeats	Brain Angular Gyrus	brain
25	chr3:75755600-75756000	ZNF genes & repeats	Pancreas	Pancrea
26	chr3:75755600-75756000	ZNF genes & repeats	Right Ventricle	heart
27	chr3:75755600-75756200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:75755600-75756200	ZNF genes & repeats	Colonic Mucosa	Colon
29	chr3:75755600-75756200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr3:75755600-75756200	ZNF genes & repeats	Left Ventricle	heart
31	chr3:75755600-75756400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr3:75755600-75756400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:75755600-75756400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr3:75755600-75756800	ZNF genes & repeats	Liver	Liver
35	chr3:75755800-75756200	ZNF genes & repeats	Fetal Kidney	kidney
36	chr3:75756200-75758800	Weak transcription	Fetal Kidney	kidney
37	chr3:75756400-75758600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr3:75756600-75758000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:75756800-75757800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:75757800-75759000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr3:75757800-75760000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr3:75757800-75760200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
43	chr3:75757800-75760800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr3:75757800-75794800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:75758000-75758600	ZNF genes & repeats	Ovary	ovary
46	chr3:75758000-75759200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:75758000-75760200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:75758400-75761800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:75758400-75762200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr3:75758600-75759800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood

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